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Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

Abstract：

:We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in an inverted orientation and included exons 35-52 of the dosage-sensitive Von Willebrand Factor (VWF) gene. Partial duplication of this gene, which has a role in the clotting cascade, suggests a potential mechanism for generating a pro-thrombotic state that may have contributed to a premature cerebrovascular event. Evidence of raised VWF antigen levels and VWF activity levels in the highest quartile provides support for this hypothesis. This case illustrates that when a ring chromosome is identified, the possibility of cryptic genomic rearrangements needs to be considered as these may have implications in predicting natural history.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Nik-Zainal S,Cotter PE,Willatt LR,Abbott K,O'Brien EW

doi

10.1016/j.ejmg.2010.09.014

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

97-101

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(10)00110-2

journal_volume

54

pub_type

信件

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